Variant report

Variant	nsv968032
Chromosome Location	chr4:21749872-21753493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561631342	chr4:21749888-21749889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150933105	chr4:21749915-21749916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564929515	chr4:21750004-21750005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527305380	chr4:21750024-21750025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540698606	chr4:21750043-21750044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184868375	chr4:21750076-21750077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140757963	chr4:21750102-21750103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532225654	chr4:21750110-21750111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560654750	chr4:21750125-21750126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145893070	chr4:21750149-21750150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17563769	chr4:21750157-21750158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61007696	chr4:21750160-21750161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368524172	chr4:21750182-21750183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570252958	chr4:21750192-21750193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566755491	chr4:21750203-21750204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533872293	chr4:21750235-21750236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190113033	chr4:21750244-21750245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576653423	chr4:21750307-21750308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1841181	chr4:21750371-21750372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541680810	chr4:21750394-21750395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138804815	chr4:21750400-21750401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181580345	chr4:21750446-21750447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543007923	chr4:21750449-21750450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561169236	chr4:21750451-21750452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184537778	chr4:21750499-21750500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113620358	chr4:21750544-21750545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540955459	chr4:21750554-21750555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565451738	chr4:21750561-21750562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532770886	chr4:21750582-21750583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375054744	chr4:21750716-21750717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557084686	chr4:21750727-21750728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550654530	chr4:21750763-21750764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562604900	chr4:21750765-21750766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552607299	chr4:21750817-21750818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189521134	chr4:21750834-21750835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114565427	chr4:21750852-21750853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180773227	chr4:21750866-21750867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116800895	chr4:21750868-21750869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186187663	chr4:21750876-21750877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566033812	chr4:21750877-21750878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533811218	chr4:21750888-21750889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17563824	chr4:21750902-21750903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79891953	chr4:21750958-21750959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1839526	chr4:21750980-21750981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556133437	chr4:21750982-21750983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575686993	chr4:21750992-21750993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536383414	chr4:21751027-21751028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189250165	chr4:21751070-21751071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111746610	chr4:21751099-21751100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115276470	chr4:21751103-21751104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21737600-21754000	Weak transcription	Fetal Heart	heart
2	chr4:21750800-21752200	Enhancers	HMEC	breast
3	chr4:21751000-21752400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:21751200-21751400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:21751200-21751600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:21751200-21751600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:21751200-21752200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:21751400-21751600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:21751400-21752200	Enhancers	Brain Hippocampus Middle	brain
10	chr4:21751400-21752200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:21751600-21754000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:21751600-21755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:21752200-21754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:21752200-21764600	Weak transcription	HMEC	breast
15	chr4:21752400-21755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:21753000-21754000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:21753200-21754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:21753200-21755200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:21753400-21754200	Enhancers	H1 Cell Line	embryonic stem cell

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